Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.128335256C>ACA360757475FBN2n.671G>T
n.752G>T
c.3887G>T (p.Gly1296Val)
c.437G>T (p.Gly146Val)
c.3788G>T (p.Gly1263Val)
c.3884G>T (p.Gly1295Val)
c.3734G>T (p.Gly1245Val)
5g.128335256C>GCA360757476FBN2n.671G>C
n.752G>C
c.3887G>C (p.Gly1296Ala)
c.437G>C (p.Gly146Ala)
c.3788G>C (p.Gly1263Ala)
c.3884G>C (p.Gly1295Ala)
c.3734G>C (p.Gly1245Ala)
5g.128335256C>TCA360757477FBN2n.671G>A
n.752G>A
c.3887G>A (p.Gly1296Asp)
c.437G>A (p.Gly146Asp)
c.3788G>A (p.Gly1263Asp)
c.3884G>A (p.Gly1295Asp)
c.3734G>A (p.Gly1245Asp)
5g.128335257C>ACA360757478FBN2n.670G>T
n.751G>T
c.3886G>T (p.Gly1296Cys)
c.436G>T (p.Gly146Cys)
c.3787G>T (p.Gly1263Cys)
c.3883G>T (p.Gly1295Cys)
c.3733G>T (p.Gly1245Cys)
5g.128335257C>GCA360757479FBN2n.670G>C
n.751G>C
c.3886G>C (p.Gly1296Arg)
c.436G>C (p.Gly146Arg)
c.3787G>C (p.Gly1263Arg)
c.3883G>C (p.Gly1295Arg)
c.3733G>C (p.Gly1245Arg)
5g.128335257C>TCA360757480FBN2n.670G>A
n.751G>A
c.3886G>A (p.Gly1296Ser)
c.436G>A (p.Gly146Ser)
c.3787G>A (p.Gly1263Ser)
c.3883G>A (p.Gly1295Ser)
c.3733G>A (p.Gly1245Ser)
 gnomAD v4
5g.128335258A=CA1581269499FBN2n.669T=
n.750T=
c.3885T= (p.Asp1295=)
c.435T= (p.Asp145=)
c.3786T= (p.Asp1262=)
c.3882T= (p.Asp1294=)
c.3732T= (p.Asp1244=)
5g.128335258A>CCA360757481FBN2n.669T>G
n.750T>G
c.3885T>G (p.Asp1295Glu)
c.435T>G (p.Asp145Glu)
c.3786T>G (p.Asp1262Glu)
c.3882T>G (p.Asp1294Glu)
c.3732T>G (p.Asp1244Glu)
5g.128335258A>GCA446310085FBN2n.669T>C
n.750T>C
c.3885T>C (p.Asp1295=)
c.435T>C (p.Asp145=)
c.3786T>C (p.Asp1262=)
c.3882T>C (p.Asp1294=)
c.3732T>C (p.Asp1244=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.128335258A>TCA360757482FBN2n.669T>A
n.750T>A
c.3885T>A (p.Asp1295Glu)
c.435T>A (p.Asp145Glu)
c.3786T>A (p.Asp1262Glu)
c.3882T>A (p.Asp1294Glu)
c.3732T>A (p.Asp1244Glu)
5g.128335259T>ACA360757483FBN2n.668A>T
n.749A>T
c.3884A>T (p.Asp1295Val)
c.434A>T (p.Asp145Val)
c.3785A>T (p.Asp1262Val)
c.3881A>T (p.Asp1294Val)
c.3731A>T (p.Asp1244Val)
5g.128335259T>CCA10587611FBN2n.668A>G
n.749A>G
c.3884A>G (p.Asp1295Gly)
c.434A>G (p.Asp145Gly)
c.3785A>G (p.Asp1262Gly)
c.3881A>G (p.Asp1294Gly)
c.3731A>G (p.Asp1244Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.128335259T>GCA360757484FBN2n.668A>C
n.749A>C
c.3884A>C (p.Asp1295Ala)
c.434A>C (p.Asp145Ala)
c.3785A>C (p.Asp1262Ala)
c.3881A>C (p.Asp1294Ala)
c.3731A>C (p.Asp1244Ala)
5g.128335259T=CA1581269500FBN2n.668A=
n.749A=
c.3884A= (p.Asp1295=)
c.434A= (p.Asp145=)
c.3785A= (p.Asp1262=)
c.3881A= (p.Asp1294=)
c.3731A= (p.Asp1244=)
5g.128335260C>ACA360757485FBN2n.667G>T
n.748G>T
c.3883G>T (p.Asp1295Tyr)
c.433G>T (p.Asp145Tyr)
c.3784G>T (p.Asp1262Tyr)
c.3880G>T (p.Asp1294Tyr)
c.3730G>T (p.Asp1244Tyr)
5g.128335260C=CA1581269501FBN2n.667G=
n.748G=
c.3883G= (p.Asp1295=)
c.433G= (p.Asp145=)
c.3784G= (p.Asp1262=)
c.3880G= (p.Asp1294=)
c.3730G= (p.Asp1244=)
5g.128335260C>GCA360757486FBN2n.667G>C
n.748G>C
c.3883G>C (p.Asp1295His)
c.433G>C (p.Asp145His)
c.3784G>C (p.Asp1262His)
c.3880G>C (p.Asp1294His)
c.3730G>C (p.Asp1244His)
5g.128335260C>TCA324462FBN2n.667G>A
n.748G>A
c.3883G>A (p.Asp1295Asn)
c.433G>A (p.Asp145Asn)
c.3784G>A (p.Asp1262Asn)
c.3880G>A (p.Asp1294Asn)
c.3730G>A (p.Asp1244Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128335261A>CCA360757487FBN2n.666T>G
n.747T>G
c.3882T>G (p.Cys1294Trp)
c.432T>G (p.Cys144Trp)
c.3783T>G (p.Cys1261Trp)
c.3879T>G (p.Cys1293Trp)
c.3729T>G (p.Cys1243Trp)
5g.128335261A>GCA446310086FBN2n.666T>C
n.747T>C
c.3882T>C (p.Cys1294=)
c.432T>C (p.Cys144=)
c.3783T>C (p.Cys1261=)
c.3879T>C (p.Cys1293=)
c.3729T>C (p.Cys1243=)
5g.128335261A>TCA360757488FBN2n.666T>A
n.747T>A
c.3882T>A (p.Cys1294Ter)
c.432T>A (p.Cys144Ter)
c.3783T>A (p.Cys1261Ter)
c.3879T>A (p.Cys1293Ter)
c.3729T>A (p.Cys1243Ter)
5g.128335262C>ACA360757489FBN2n.665G>T
n.746G>T
c.3881G>T (p.Cys1294Phe)
c.431G>T (p.Cys144Phe)
c.3782G>T (p.Cys1261Phe)
c.3878G>T (p.Cys1293Phe)
c.3728G>T (p.Cys1243Phe)
5g.128335262C=CA1581269502FBN2n.665G=
n.746G=
c.3881G= (p.Cys1294=)
c.431G= (p.Cys144=)
c.3782G= (p.Cys1261=)
c.3878G= (p.Cys1293=)
c.3728G= (p.Cys1243=)
5g.128335262C>GCA360757490FBN2n.665G>C
n.746G>C
c.3881G>C (p.Cys1294Ser)
c.431G>C (p.Cys144Ser)
c.3782G>C (p.Cys1261Ser)
c.3878G>C (p.Cys1293Ser)
c.3728G>C (p.Cys1243Ser)
 dbSNP gnomAD v4
5g.128335262C>TCA360757491FBN2n.665G>A
n.746G>A
c.3881G>A (p.Cys1294Tyr)
c.431G>A (p.Cys144Tyr)
c.3782G>A (p.Cys1261Tyr)
c.3878G>A (p.Cys1293Tyr)
c.3728G>A (p.Cys1243Tyr)
5g.128335263A=CA1581269503FBN2n.664T=
n.745T=
c.3880T= (p.Cys1294=)
c.430T= (p.Cys144=)
c.3781T= (p.Cys1261=)
c.3877T= (p.Cys1293=)
c.3727T= (p.Cys1243=)
5g.128335263A>CCA360757492FBN2n.664T>G
n.745T>G
c.3880T>G (p.Cys1294Gly)
c.430T>G (p.Cys144Gly)
c.3781T>G (p.Cys1261Gly)
c.3877T>G (p.Cys1293Gly)
c.3727T>G (p.Cys1243Gly)
5g.128335263A>GCA3395107FBN2n.664T>C
n.745T>C
c.3880T>C (p.Cys1294Arg)
c.430T>C (p.Cys144Arg)
c.3781T>C (p.Cys1261Arg)
c.3877T>C (p.Cys1293Arg)
c.3727T>C (p.Cys1243Arg)
 dbSNP ExAC gnomAD v4
5g.128335263A>TCA360757493FBN2n.664T>A
n.745T>A
c.3880T>A (p.Cys1294Ser)
c.430T>A (p.Cys144Ser)
c.3781T>A (p.Cys1261Ser)
c.3877T>A (p.Cys1293Ser)
c.3727T>A (p.Cys1243Ser)
5g.128335264G>ACA446310087FBN2n.663C>T
n.744C>T
c.3879C>T (p.Ile1293=)
c.429C>T (p.Ile143=)
c.3780C>T (p.Ile1260=)
c.3876C>T (p.Ile1292=)
c.3726C>T (p.Ile1242=)
 dbSNP gnomAD v2 gnomAD v4
5g.128335264G>CCA360757494FBN2n.663C>G
n.744C>G
c.3879C>G (p.Ile1293Met)
c.429C>G (p.Ile143Met)
c.3780C>G (p.Ile1260Met)
c.3876C>G (p.Ile1292Met)
c.3726C>G (p.Ile1242Met)
5g.128335264G=CA1581269504FBN2n.663C=
n.744C=
c.3879C= (p.Ile1293=)
c.429C= (p.Ile143=)
c.3780C= (p.Ile1260=)
c.3876C= (p.Ile1292=)
c.3726C= (p.Ile1242=)
5g.128335264G>TCA446310088FBN2n.663C>A
n.744C>A
c.3879C>A (p.Ile1293=)
c.429C>A (p.Ile143=)
c.3780C>A (p.Ile1260=)
c.3876C>A (p.Ile1292=)
c.3726C>A (p.Ile1242=)
5g.128335265A=CA1581269505FBN2n.662T=
n.743T=
c.3878T= (p.Ile1293=)
c.428T= (p.Ile143=)
c.3779T= (p.Ile1260=)
c.3875T= (p.Ile1292=)
c.3725T= (p.Ile1242=)
5g.128335265A>CCA360757496FBN2n.662T>G
n.743T>G
c.3878T>G (p.Ile1293Ser)
c.428T>G (p.Ile143Ser)
c.3779T>G (p.Ile1260Ser)
c.3875T>G (p.Ile1292Ser)
c.3725T>G (p.Ile1242Ser)
5g.128335265A>GCA360757497FBN2n.662T>C
n.743T>C
c.3878T>C (p.Ile1293Thr)
c.428T>C (p.Ile143Thr)
c.3779T>C (p.Ile1260Thr)
c.3875T>C (p.Ile1292Thr)
c.3725T>C (p.Ile1242Thr)
 ClinVar dbSNP gnomAD v4
5g.128335265A>TCA360757495FBN2n.662T>A
n.743T>A
c.3878T>A (p.Ile1293Asn)
c.428T>A (p.Ile143Asn)
c.3779T>A (p.Ile1260Asn)
c.3875T>A (p.Ile1292Asn)
c.3725T>A (p.Ile1242Asn)
5g.128335266T>ACA360757498FBN2n.661A>T
n.742A>T
c.3877A>T (p.Ile1293Phe)
c.427A>T (p.Ile143Phe)
c.3778A>T (p.Ile1260Phe)
c.3874A>T (p.Ile1292Phe)
c.3724A>T (p.Ile1242Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128335266T>CCA360757499FBN2n.661A>G
n.742A>G
c.3877A>G (p.Ile1293Val)
c.427A>G (p.Ile143Val)
c.3778A>G (p.Ile1260Val)
c.3874A>G (p.Ile1292Val)
c.3724A>G (p.Ile1242Val)
5g.128335266T>GCA360757500FBN2n.661A>C
n.742A>C
c.3877A>C (p.Ile1293Leu)
c.427A>C (p.Ile143Leu)
c.3778A>C (p.Ile1260Leu)
c.3874A>C (p.Ile1292Leu)
c.3724A>C (p.Ile1242Leu)
5g.128335266T=CA1581269506FBN2n.661A=
n.742A=
c.3877A= (p.Ile1293=)
c.427A= (p.Ile143=)
c.3778A= (p.Ile1260=)
c.3874A= (p.Ile1292=)
c.3724A= (p.Ile1242=)
5g.128335267A>CCA360757501FBN2n.660T>G
n.741T>G
c.3876T>G (p.Asp1292Glu)
c.426T>G (p.Asp142Glu)
c.3777T>G (p.Asp1259Glu)
c.3873T>G (p.Asp1291Glu)
c.3723T>G (p.Asp1241Glu)
5g.128335267A>GCA446310089FBN2n.660T>C
n.741T>C
c.3876T>C (p.Asp1292=)
c.426T>C (p.Asp142=)
c.3777T>C (p.Asp1259=)
c.3873T>C (p.Asp1291=)
c.3723T>C (p.Asp1241=)
5g.128335267A>TCA360757502FBN2n.660T>A
n.741T>A
c.3876T>A (p.Asp1292Glu)
c.426T>A (p.Asp142Glu)
c.3777T>A (p.Asp1259Glu)
c.3873T>A (p.Asp1291Glu)
c.3723T>A (p.Asp1241Glu)
5g.128335268T>ACA360757503FBN2n.659A>T
n.740A>T
c.3875A>T (p.Asp1292Val)
c.425A>T (p.Asp142Val)
c.3776A>T (p.Asp1259Val)
c.3872A>T (p.Asp1291Val)
c.3722A>T (p.Asp1241Val)
5g.128335268T>CCA360757505FBN2n.659A>G
n.740A>G
c.3875A>G (p.Asp1292Gly)
c.425A>G (p.Asp142Gly)
c.3776A>G (p.Asp1259Gly)
c.3872A>G (p.Asp1291Gly)
c.3722A>G (p.Asp1241Gly)
 dbSNP gnomAD v2 gnomAD v4
5g.128335268T>GCA360757507FBN2n.659A>C
n.740A>C
c.3875A>C (p.Asp1292Ala)
c.425A>C (p.Asp142Ala)
c.3776A>C (p.Asp1259Ala)
c.3872A>C (p.Asp1291Ala)
c.3722A>C (p.Asp1241Ala)
5g.128335268T=CA1581269507FBN2n.659A=
n.740A=
c.3875A= (p.Asp1292=)
c.425A= (p.Asp142=)
c.3776A= (p.Asp1259=)
c.3872A= (p.Asp1291=)
c.3722A= (p.Asp1241=)
5g.128335269C>ACA360757509FBN2n.658G>T
n.739G>T
c.3874G>T (p.Asp1292Tyr)
c.424G>T (p.Asp142Tyr)
c.3775G>T (p.Asp1259Tyr)
c.3871G>T (p.Asp1291Tyr)
c.3721G>T (p.Asp1241Tyr)
 ClinVar dbSNP
5g.128335269C=CA1581269508FBN2n.658G=
n.739G=
c.3874G= (p.Asp1292=)
c.424G= (p.Asp142=)
c.3775G= (p.Asp1259=)
c.3871G= (p.Asp1291=)
c.3721G= (p.Asp1241=)
5g.128335269C>GCA360757511FBN2n.658G>C
n.739G>C
c.3874G>C (p.Asp1292His)
c.424G>C (p.Asp142His)
c.3775G>C (p.Asp1259His)
c.3871G>C (p.Asp1291His)
c.3721G>C (p.Asp1241His)
5g.128335269C>TCA360757513FBN2n.658G>A
n.739G>A
c.3874G>A (p.Asp1292Asn)
c.424G>A (p.Asp142Asn)
c.3775G>A (p.Asp1259Asn)
c.3871G>A (p.Asp1291Asn)
c.3721G>A (p.Asp1241Asn)
5g.128335270A=CA1581269509FBN2n.657T=
n.738T=
c.3873T= (p.Pro1291=)
c.423T= (p.Pro141=)
c.3774T= (p.Pro1258=)
c.3870T= (p.Pro1290=)
c.3720T= (p.Pro1240=)
5g.128335270A>CCA3395108FBN2n.657T>G
n.738T>G
c.3873T>G (p.Pro1291=)
c.423T>G (p.Pro141=)
c.3774T>G (p.Pro1258=)
c.3870T>G (p.Pro1290=)
c.3720T>G (p.Pro1240=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128335270A>GCA446310091FBN2n.657T>C
n.738T>C
c.3873T>C (p.Pro1291=)
c.423T>C (p.Pro141=)
c.3774T>C (p.Pro1258=)
c.3870T>C (p.Pro1290=)
c.3720T>C (p.Pro1240=)
 dbSNP gnomAD v2 gnomAD v4
5g.128335270A>TCA446310092FBN2n.657T>A
n.738T>A
c.3873T>A (p.Pro1291=)
c.423T>A (p.Pro141=)
c.3774T>A (p.Pro1258=)
c.3870T>A (p.Pro1290=)
c.3720T>A (p.Pro1240=)
5g.128335271G>ACA360757518FBN2n.656C>T
n.737C>T
c.3872C>T (p.Pro1291Leu)
c.422C>T (p.Pro141Leu)
c.3773C>T (p.Pro1258Leu)
c.3869C>T (p.Pro1290Leu)
c.3719C>T (p.Pro1240Leu)
5g.128335271G>CCA360757519FBN2n.656C>G
n.737C>G
c.3872C>G (p.Pro1291Arg)
c.422C>G (p.Pro141Arg)
c.3773C>G (p.Pro1258Arg)
c.3869C>G (p.Pro1290Arg)
c.3719C>G (p.Pro1240Arg)
 dbSNP
5g.128335271G=CA1581269510FBN2n.656C=
n.737C=
c.3872C= (p.Pro1291=)
c.422C= (p.Pro141=)
c.3773C= (p.Pro1258=)
c.3869C= (p.Pro1290=)
c.3719C= (p.Pro1240=)
5g.128335271G>TCA360757517FBN2n.656C>A
n.737C>A
c.3872C>A (p.Pro1291His)
c.422C>A (p.Pro141His)
c.3773C>A (p.Pro1258His)
c.3869C>A (p.Pro1290His)
c.3719C>A (p.Pro1240His)
5g.128335272G>ACA360757520FBN2n.655C>T
n.736C>T
c.3871C>T (p.Pro1291Ser)
c.421C>T (p.Pro141Ser)
c.3772C>T (p.Pro1258Ser)
c.3868C>T (p.Pro1290Ser)
c.3718C>T (p.Pro1240Ser)
 COSMIC COSMIC
5g.128335272G>CCA360757521FBN2n.655C>G
n.736C>G
c.3871C>G (p.Pro1291Ala)
c.421C>G (p.Pro141Ala)
c.3772C>G (p.Pro1258Ala)
c.3868C>G (p.Pro1290Ala)
c.3718C>G (p.Pro1240Ala)
 dbSNP
5g.128335272G=CA1581269511FBN2n.655C=
n.736C=
c.3871C= (p.Pro1291=)
c.421C= (p.Pro141=)
c.3772C= (p.Pro1258=)
c.3868C= (p.Pro1290=)
c.3718C= (p.Pro1240=)
5g.128335272G>TCA360757523FBN2n.655C>A
n.736C>A
c.3871C>A (p.Pro1291Thr)
c.421C>A (p.Pro141Thr)
c.3772C>A (p.Pro1258Thr)
c.3868C>A (p.Pro1290Thr)
c.3718C>A (p.Pro1240Thr)
 ClinVar
5g.128335273A=CA1581269512FBN2n.654T=
n.735T=
c.3870T= (p.Asn1290=)
c.420T= (p.Asn140=)
c.3771T= (p.Asn1257=)
c.3867T= (p.Asn1289=)
c.3717T= (p.Asn1239=)
5g.128335273A>CCA360757526FBN2n.654T>G
n.735T>G
c.3870T>G (p.Asn1290Lys)
c.420T>G (p.Asn140Lys)
c.3771T>G (p.Asn1257Lys)
c.3867T>G (p.Asn1289Lys)
c.3717T>G (p.Asn1239Lys)
5g.128335273A>GCA446310093FBN2n.654T>C
n.735T>C
c.3870T>C (p.Asn1290=)
c.420T>C (p.Asn140=)
c.3771T>C (p.Asn1257=)
c.3867T>C (p.Asn1289=)
c.3717T>C (p.Asn1239=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.128335273A>TCA360757527FBN2n.654T>A
n.735T>A
c.3870T>A (p.Asn1290Lys)
c.420T>A (p.Asn140Lys)
c.3771T>A (p.Asn1257Lys)
c.3867T>A (p.Asn1289Lys)
c.3717T>A (p.Asn1239Lys)
5g.128335274T>ACA360757532FBN2n.653A>T
n.734A>T
c.3869A>T (p.Asn1290Ile)
c.419A>T (p.Asn140Ile)
c.3770A>T (p.Asn1257Ile)
c.3866A>T (p.Asn1289Ile)
c.3716A>T (p.Asn1239Ile)
5g.128335274T>CCA3395109FBN2n.653A>G
n.734A>G
c.3869A>G (p.Asn1290Ser)
c.419A>G (p.Asn140Ser)
c.3770A>G (p.Asn1257Ser)
c.3866A>G (p.Asn1289Ser)
c.3716A>G (p.Asn1239Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.128335274T>GCA360757530FBN2n.653A>C
n.734A>C
c.3869A>C (p.Asn1290Thr)
c.419A>C (p.Asn140Thr)
c.3770A>C (p.Asn1257Thr)
c.3866A>C (p.Asn1289Thr)
c.3716A>C (p.Asn1239Thr)
5g.128335274T=CA1581269513FBN2n.653A=
n.734A=
c.3869A= (p.Asn1290=)
c.419A= (p.Asn140=)
c.3770A= (p.Asn1257=)
c.3866A= (p.Asn1289=)
c.3716A= (p.Asn1239=)
5g.128335275T>ACA360757535FBN2n.652A>T
n.733A>T
c.3868A>T (p.Asn1290Tyr)
c.418A>T (p.Asn140Tyr)
c.3769A>T (p.Asn1257Tyr)
c.3865A>T (p.Asn1289Tyr)
c.3715A>T (p.Asn1239Tyr)
5g.128335275T>CCA360757536FBN2n.652A>G
n.733A>G
c.3868A>G (p.Asn1290Asp)
c.418A>G (p.Asn140Asp)
c.3769A>G (p.Asn1257Asp)
c.3865A>G (p.Asn1289Asp)
c.3715A>G (p.Asn1239Asp)
5g.128335275T>GCA360757537FBN2n.652A>C
n.733A>C
c.3868A>C (p.Asn1290His)
c.418A>C (p.Asn140His)
c.3769A>C (p.Asn1257His)
c.3865A>C (p.Asn1289His)
c.3715A>C (p.Asn1239His)
5g.128335276G>ACA446310094FBN2n.651C>T
n.732C>T
c.3867C>T (p.Asn1289=)
c.417C>T (p.Asn139=)
c.3768C>T (p.Asn1256=)
c.3864C>T (p.Asn1288=)
c.3714C>T (p.Asn1238=)
 COSMIC COSMIC
5g.128335276G>CCA360757540FBN2n.651C>G
n.732C>G
c.3867C>G (p.Asn1289Lys)
c.417C>G (p.Asn139Lys)
c.3768C>G (p.Asn1256Lys)
c.3864C>G (p.Asn1288Lys)
c.3714C>G (p.Asn1238Lys)
5g.128335276G>TCA360757542FBN2n.651C>A
n.732C>A
c.3867C>A (p.Asn1289Lys)
c.417C>A (p.Asn139Lys)
c.3768C>A (p.Asn1256Lys)
c.3864C>A (p.Asn1288Lys)
c.3714C>A (p.Asn1238Lys)
5g.128335277T>ACA360757548FBN2n.650A>T
n.731A>T
c.3866A>T (p.Asn1289Ile)
c.416A>T (p.Asn139Ile)
c.3767A>T (p.Asn1256Ile)
c.3863A>T (p.Asn1288Ile)
c.3713A>T (p.Asn1238Ile)
5g.128335277T>CCA360757546FBN2n.650A>G
n.731A>G
c.3866A>G (p.Asn1289Ser)
c.416A>G (p.Asn139Ser)
c.3767A>G (p.Asn1256Ser)
c.3863A>G (p.Asn1288Ser)
c.3713A>G (p.Asn1238Ser)
 ClinVar dbSNP gnomAD v2
5g.128335277T>GCA360757544FBN2n.650A>C
n.731A>C
c.3866A>C (p.Asn1289Thr)
c.416A>C (p.Asn139Thr)
c.3767A>C (p.Asn1256Thr)
c.3863A>C (p.Asn1288Thr)
c.3713A>C (p.Asn1238Thr)
5g.128335277T=CA1581269514FBN2n.650A=
n.731A=
c.3866A= (p.Asn1289=)
c.416A= (p.Asn139=)
c.3767A= (p.Asn1256=)
c.3863A= (p.Asn1288=)
c.3713A= (p.Asn1238=)
5g.128335278T>ACA360757549FBN2n.649A>T
n.730A>T
c.3865A>T (p.Asn1289Tyr)
c.415A>T (p.Asn139Tyr)
c.3766A>T (p.Asn1256Tyr)
c.3862A>T (p.Asn1288Tyr)
c.3712A>T (p.Asn1238Tyr)
5g.128335278T>CCA360757553FBN2n.649A>G
n.730A>G
c.3865A>G (p.Asn1289Asp)
c.415A>G (p.Asn139Asp)
c.3766A>G (p.Asn1256Asp)
c.3862A>G (p.Asn1288Asp)
c.3712A>G (p.Asn1238Asp)
5g.128335278T>GCA360757551FBN2n.649A>C
n.730A>C
c.3865A>C (p.Asn1289His)
c.415A>C (p.Asn139His)
c.3766A>C (p.Asn1256His)
c.3862A>C (p.Asn1288His)
c.3712A>C (p.Asn1238His)
5g.128335279T>ACA360757555FBN2n.648A>T
n.729A>T
c.3864A>T (p.Glu1288Asp)
c.414A>T (p.Glu138Asp)
c.3765A>T (p.Glu1255Asp)
c.3861A>T (p.Glu1287Asp)
c.3711A>T (p.Glu1237Asp)
 dbSNP
5g.128335279T>CCA446310095FBN2n.648A>G
n.729A>G
c.3864A>G (p.Glu1288=)
c.414A>G (p.Glu138=)
c.3765A>G (p.Glu1255=)
c.3861A>G (p.Glu1287=)
c.3711A>G (p.Glu1237=)
5g.128335279T>GCA360757557FBN2n.648A>C
n.729A>C
c.3864A>C (p.Glu1288Asp)
c.414A>C (p.Glu138Asp)
c.3765A>C (p.Glu1255Asp)
c.3861A>C (p.Glu1287Asp)
c.3711A>C (p.Glu1237Asp)
5g.128335280T>ACA360757840FBN2n.647A>T
n.728A>T
c.3863A>T (p.Glu1288Val)
c.413A>T (p.Glu138Val)
c.3764A>T (p.Glu1255Val)
c.3860A>T (p.Glu1287Val)
c.3710A>T (p.Glu1237Val)
5g.128335280T>CCA360757841FBN2n.647A>G
n.728A>G
c.3863A>G (p.Glu1288Gly)
c.413A>G (p.Glu138Gly)
c.3764A>G (p.Glu1255Gly)
c.3860A>G (p.Glu1287Gly)
c.3710A>G (p.Glu1237Gly)
5g.128335280T>GCA360757842FBN2n.647A>C
n.728A>C
c.3863A>C (p.Glu1288Ala)
c.413A>C (p.Glu138Ala)
c.3764A>C (p.Glu1255Ala)
c.3860A>C (p.Glu1287Ala)
c.3710A>C (p.Glu1237Ala)
5g.128335281C>ACA360757843FBN2n.646G>T
n.727G>T
c.3862G>T (p.Glu1288Ter)
c.412G>T (p.Glu138Ter)
c.3763G>T (p.Glu1255Ter)
c.3859G>T (p.Glu1287Ter)
c.3709G>T (p.Glu1237Ter)
5g.128335281C=CA1581269515FBN2n.646G=
n.727G=
c.3862G= (p.Glu1288=)
c.412G= (p.Glu138=)
c.3763G= (p.Glu1255=)
c.3859G= (p.Glu1287=)
c.3709G= (p.Glu1237=)
5g.128335281C>GCA360757844FBN2n.646G>C
n.727G>C
c.3862G>C (p.Glu1288Gln)
c.412G>C (p.Glu138Gln)
c.3763G>C (p.Glu1255Gln)
c.3859G>C (p.Glu1287Gln)
c.3709G>C (p.Glu1237Gln)
5g.128335281C>TCA3395110FBN2n.646G>A
n.727G>A
c.3862G>A (p.Glu1288Lys)
c.412G>A (p.Glu138Lys)
c.3763G>A (p.Glu1255Lys)
c.3859G>A (p.Glu1287Lys)
c.3709G>A (p.Glu1237Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128335282A>CCA360757845FBN2n.645T>G
n.726T>G
c.3861T>G (p.Cys1287Trp)
c.411T>G (p.Cys137Trp)
c.3762T>G (p.Cys1254Trp)
c.3858T>G (p.Cys1286Trp)
c.3708T>G (p.Cys1236Trp)
5g.128335282A>GCA446310105FBN2n.645T>C
n.726T>C
c.3861T>C (p.Cys1287=)
c.411T>C (p.Cys137=)
c.3762T>C (p.Cys1254=)
c.3858T>C (p.Cys1286=)
c.3708T>C (p.Cys1236=)
5g.128335282A>TCA360757846FBN2n.645T>A
n.726T>A
c.3861T>A (p.Cys1287Ter)
c.411T>A (p.Cys137Ter)
c.3762T>A (p.Cys1254Ter)
c.3858T>A (p.Cys1286Ter)
c.3708T>A (p.Cys1236Ter)
5g.128335283C>ACA360757847FBN2n.644G>T
n.725G>T
c.3860G>T (p.Cys1287Phe)
c.410G>T (p.Cys137Phe)
c.3761G>T (p.Cys1254Phe)
c.3857G>T (p.Cys1286Phe)
c.3707G>T (p.Cys1236Phe)
5g.128335283C>GCA360757848FBN2n.644G>C
n.725G>C
c.3860G>C (p.Cys1287Ser)
c.410G>C (p.Cys137Ser)
c.3761G>C (p.Cys1254Ser)
c.3857G>C (p.Cys1286Ser)
c.3707G>C (p.Cys1236Ser)
5g.128335283C>TCA360757849FBN2n.644G>A
n.725G>A
c.3860G>A (p.Cys1287Tyr)
c.410G>A (p.Cys137Tyr)
c.3761G>A (p.Cys1254Tyr)
c.3857G>A (p.Cys1286Tyr)
c.3707G>A (p.Cys1236Tyr)
5g.128335284A>CCA360757850FBN2n.643T>G
n.724T>G
c.3859T>G (p.Cys1287Gly)
c.409T>G (p.Cys137Gly)
c.3760T>G (p.Cys1254Gly)
c.3856T>G (p.Cys1286Gly)
c.3706T>G (p.Cys1236Gly)
5g.128335284A>GCA360757852FBN2n.643T>C
n.724T>C
c.3859T>C (p.Cys1287Arg)
c.409T>C (p.Cys137Arg)
c.3760T>C (p.Cys1254Arg)
c.3856T>C (p.Cys1286Arg)
c.3706T>C (p.Cys1236Arg)
5g.128335284A>TCA360757851FBN2n.643T>A
n.724T>A
c.3859T>A (p.Cys1287Ser)
c.409T>A (p.Cys137Ser)
c.3760T>A (p.Cys1254Ser)
c.3856T>A (p.Cys1286Ser)
c.3706T>A (p.Cys1236Ser)
5g.128335285T>ACA360757853FBN2n.642A>T
n.723A>T
c.3858A>T (p.Glu1286Asp)
c.408A>T (p.Glu136Asp)
c.3759A>T (p.Glu1253Asp)
c.3855A>T (p.Glu1285Asp)
c.3705A>T (p.Glu1235Asp)
5g.128335285T>CCA127013681FBN2n.642A>G
n.723A>G
c.3858A>G (p.Glu1286=)
c.408A>G (p.Glu136=)
c.3759A>G (p.Glu1253=)
c.3855A>G (p.Glu1285=)
c.3705A>G (p.Glu1235=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128335285T>GCA360757854FBN2n.642A>C
n.723A>C
c.3858A>C (p.Glu1286Asp)
c.408A>C (p.Glu136Asp)
c.3759A>C (p.Glu1253Asp)
c.3855A>C (p.Glu1285Asp)
c.3705A>C (p.Glu1235Asp)
5g.128335285T=CA1581269516FBN2n.642A=
n.723A=
c.3858A= (p.Glu1286=)
c.408A= (p.Glu136=)
c.3759A= (p.Glu1253=)
c.3855A= (p.Glu1285=)
c.3705A= (p.Glu1235=)
5g.128335286T>ACA360757855FBN2n.641A>T
n.722A>T
c.3857A>T (p.Glu1286Val)
c.407A>T (p.Glu136Val)
c.3758A>T (p.Glu1253Val)
c.3854A>T (p.Glu1285Val)
c.3704A>T (p.Glu1235Val)
5g.128335286T>CCA360757856FBN2n.641A>G
n.722A>G
c.3857A>G (p.Glu1286Gly)
c.407A>G (p.Glu136Gly)
c.3758A>G (p.Glu1253Gly)
c.3854A>G (p.Glu1285Gly)
c.3704A>G (p.Glu1235Gly)
5g.128335286T>GCA360757857FBN2n.641A>C
n.722A>C
c.3857A>C (p.Glu1286Ala)
c.407A>C (p.Glu136Ala)
c.3758A>C (p.Glu1253Ala)
c.3854A>C (p.Glu1285Ala)
c.3704A>C (p.Glu1235Ala)
5g.128335287C>ACA360757858FBN2n.640G>T
n.721G>T
c.3856G>T (p.Glu1286Ter)
c.406G>T (p.Glu136Ter)
c.3757G>T (p.Glu1253Ter)
c.3853G>T (p.Glu1285Ter)
c.3703G>T (p.Glu1235Ter)
5g.128335287C>GCA360757859FBN2n.640G>C
n.721G>C
c.3856G>C (p.Glu1286Gln)
c.406G>C (p.Glu136Gln)
c.3757G>C (p.Glu1253Gln)
c.3853G>C (p.Glu1285Gln)
c.3703G>C (p.Glu1235Gln)
 ClinVar dbSNP
5g.128335287C>TCA360757860FBN2n.640G>A
n.721G>A
c.3856G>A (p.Glu1286Lys)
c.406G>A (p.Glu136Lys)
c.3757G>A (p.Glu1253Lys)
c.3853G>A (p.Glu1285Lys)
c.3703G>A (p.Glu1235Lys)
5g.128335288A>CCA360757861FBN2n.639T>G
n.720T>G
c.3855T>G (p.Asp1285Glu)
c.405T>G (p.Asp135Glu)
c.3756T>G (p.Asp1252Glu)
c.3852T>G (p.Asp1284Glu)
c.3702T>G (p.Asp1234Glu)
5g.128335288A>GCA446310106FBN2n.639T>C
n.720T>C
c.3855T>C (p.Asp1285=)
c.405T>C (p.Asp135=)
c.3756T>C (p.Asp1252=)
c.3852T>C (p.Asp1284=)
c.3702T>C (p.Asp1234=)
5g.128335288A>TCA360757862FBN2n.639T>A
n.720T>A
c.3855T>A (p.Asp1285Glu)
c.405T>A (p.Asp135Glu)
c.3756T>A (p.Asp1252Glu)
c.3852T>A (p.Asp1284Glu)
c.3702T>A (p.Asp1234Glu)
5g.128335289T>ACA360757865FBN2n.638A>T
n.719A>T
c.3854A>T (p.Asp1285Val)
c.404A>T (p.Asp135Val)
c.3755A>T (p.Asp1252Val)
c.3851A>T (p.Asp1284Val)
c.3701A>T (p.Asp1234Val)
 gnomAD v4
5g.128335289T>CCA360757864FBN2n.638A>G
n.719A>G
c.3854A>G (p.Asp1285Gly)
c.404A>G (p.Asp135Gly)
c.3755A>G (p.Asp1252Gly)
c.3851A>G (p.Asp1284Gly)
c.3701A>G (p.Asp1234Gly)
 gnomAD v4
5g.128335289T>GCA360757863FBN2n.638A>C
n.719A>C
c.3854A>C (p.Asp1285Ala)
c.404A>C (p.Asp135Ala)
c.3755A>C (p.Asp1252Ala)
c.3851A>C (p.Asp1284Ala)
c.3701A>C (p.Asp1234Ala)
5g.128335290C>ACA360757866FBN2n.637G>T
n.718G>T
c.3853G>T (p.Asp1285Tyr)
c.403G>T (p.Asp135Tyr)
c.3754G>T (p.Asp1252Tyr)
c.3850G>T (p.Asp1284Tyr)
c.3700G>T (p.Asp1234Tyr)
5g.128335290C>GCA360757867FBN2n.637G>C
n.718G>C
c.3853G>C (p.Asp1285His)
c.403G>C (p.Asp135His)
c.3754G>C (p.Asp1252His)
c.3850G>C (p.Asp1284His)
c.3700G>C (p.Asp1234His)
 gnomAD v4
5g.128335290C>TCA360757868FBN2n.637G>A
n.718G>A
c.3853G>A (p.Asp1285Asn)
c.403G>A (p.Asp135Asn)
c.3754G>A (p.Asp1252Asn)
c.3850G>A (p.Asp1284Asn)
c.3700G>A (p.Asp1234Asn)
 gnomAD v4
5g.128335291A>CCA360757869FBN2n.636T>G
n.717T>G
c.3852T>G (p.Ile1284Met)
c.402T>G (p.Ile134Met)
c.3753T>G (p.Ile1251Met)
c.3849T>G (p.Ile1283Met)
c.3699T>G (p.Ile1233Met)
5g.128335291A>GCA446310107FBN2n.636T>C
n.717T>C
c.3852T>C (p.Ile1284=)
c.402T>C (p.Ile134=)
c.3753T>C (p.Ile1251=)
c.3849T>C (p.Ile1283=)
c.3699T>C (p.Ile1233=)
5g.128335291A>TCA446310108FBN2n.636T>A
n.717T>A
c.3852T>A (p.Ile1284=)
c.402T>A (p.Ile134=)
c.3753T>A (p.Ile1251=)
c.3849T>A (p.Ile1283=)
c.3699T>A (p.Ile1233=)
5g.128335292A=CA1581269517FBN2n.635T=
n.716T=
c.3851T= (p.Ile1284=)
c.401T= (p.Ile134=)
c.3752T= (p.Ile1251=)
c.3848T= (p.Ile1283=)
c.3698T= (p.Ile1233=)
5g.128335292A>CCA360757870FBN2n.635T>G
n.716T>G
c.3851T>G (p.Ile1284Ser)
c.401T>G (p.Ile134Ser)
c.3752T>G (p.Ile1251Ser)
c.3848T>G (p.Ile1283Ser)
c.3698T>G (p.Ile1233Ser)
5g.128335292A>GCA360757871FBN2n.635T>C
n.716T>C
c.3851T>C (p.Ile1284Thr)
c.401T>C (p.Ile134Thr)
c.3752T>C (p.Ile1251Thr)
c.3848T>C (p.Ile1283Thr)
c.3698T>C (p.Ile1233Thr)
 dbSNP gnomAD v2 gnomAD v4
5g.128335292A>TCA360757872FBN2n.635T>A
n.716T>A
c.3851T>A (p.Ile1284Asn)
c.401T>A (p.Ile134Asn)
c.3752T>A (p.Ile1251Asn)
c.3848T>A (p.Ile1283Asn)
c.3698T>A (p.Ile1233Asn)
5g.128335293T>ACA360757873FBN2n.634A>T
n.715A>T
c.3850A>T (p.Ile1284Phe)
c.400A>T (p.Ile134Phe)
c.3751A>T (p.Ile1251Phe)
c.3847A>T (p.Ile1283Phe)
c.3697A>T (p.Ile1233Phe)
5g.128335293T>CCA3395111FBN2n.634A>G
n.715A>G
c.3850A>G (p.Ile1284Val)
c.400A>G (p.Ile134Val)
c.3751A>G (p.Ile1251Val)
c.3847A>G (p.Ile1283Val)
c.3697A>G (p.Ile1233Val)
 dbSNP ExAC gnomAD v3 gnomAD v4
5g.128335293T>GCA360757874FBN2n.634A>C
n.715A>C
c.3850A>C (p.Ile1284Leu)
c.400A>C (p.Ile134Leu)
c.3751A>C (p.Ile1251Leu)
c.3847A>C (p.Ile1283Leu)
c.3697A>C (p.Ile1233Leu)
5g.128335293T=CA1581269518FBN2n.634A=
n.715A=
c.3850A= (p.Ile1284=)
c.400A= (p.Ile134=)
c.3751A= (p.Ile1251=)
c.3847A= (p.Ile1283=)
c.3697A= (p.Ile1233=)
5g.128335294G>ACA127013685FBN2n.633C>T
n.714C>T
c.3849C>T (p.Asp1283=)
c.399C>T (p.Asp133=)
c.3750C>T (p.Asp1250=)
c.3846C>T (p.Asp1282=)
c.3696C>T (p.Asp1232=)
 ClinVar dbSNP
5g.128335294G>CCA360757875FBN2n.633C>G
n.714C>G
c.3849C>G (p.Asp1283Glu)
c.399C>G (p.Asp133Glu)
c.3750C>G (p.Asp1250Glu)
c.3846C>G (p.Asp1282Glu)
c.3696C>G (p.Asp1232Glu)
5g.128335294G=CA1581269519FBN2n.633C=
n.714C=
c.3849C= (p.Asp1283=)
c.399C= (p.Asp133=)
c.3750C= (p.Asp1250=)
c.3846C= (p.Asp1282=)
c.3696C= (p.Asp1232=)
5g.128335294G>TCA360757876FBN2n.633C>A
n.714C>A
c.3849C>A (p.Asp1283Glu)
c.399C>A (p.Asp133Glu)
c.3750C>A (p.Asp1250Glu)
c.3846C>A (p.Asp1282Glu)
c.3696C>A (p.Asp1232Glu)
5g.128335295T>ACA360757879FBN2n.632A>T
n.713A>T
c.3848A>T (p.Asp1283Val)
c.398A>T (p.Asp133Val)
c.3749A>T (p.Asp1250Val)
c.3845A>T (p.Asp1282Val)
c.3695A>T (p.Asp1232Val)
5g.128335295T>CCA360757878FBN2n.632A>G
n.713A>G
c.3848A>G (p.Asp1283Gly)
c.398A>G (p.Asp133Gly)
c.3749A>G (p.Asp1250Gly)
c.3845A>G (p.Asp1282Gly)
c.3695A>G (p.Asp1232Gly)
 gnomAD v4
5g.128335295T>GCA360757877FBN2n.632A>C
n.713A>C
c.3848A>C (p.Asp1283Ala)
c.398A>C (p.Asp133Ala)
c.3749A>C (p.Asp1250Ala)
c.3845A>C (p.Asp1282Ala)
c.3695A>C (p.Asp1232Ala)
5g.128335296C>ACA360757880FBN2n.632-1G>T
n.713-1G>T
c.3848-1G>T (n.3848-1G>T)
c.398-1G>T (n.398-1G>T)
c.3749-1G>T (n.3749-1G>T)
c.3845-1G>T (n.3845-1G>T)
c.3695-1G>T (n.3695-1G>T)
5g.128335296C=CA1581269520FBN2n.632-1G=
n.713-1G=
c.3848-1G= (n.3848-1G=)
c.398-1G= (n.398-1G=)
c.3749-1G= (n.3749-1G=)
c.3845-1G= (n.3845-1G=)
c.3695-1G= (n.3695-1G=)
5g.128335296C>GCA360757881FBN2n.632-1G>C
n.713-1G>C
c.3848-1G>C (n.3848-1G>C)
c.398-1G>C (n.398-1G>C)
c.3749-1G>C (n.3749-1G>C)
c.3845-1G>C (n.3845-1G>C)
c.3695-1G>C (n.3695-1G>C)
5g.128335296C>TCA360757882FBN2n.632-1G>A
n.713-1G>A
c.3848-1G>A (n.3848-1G>A)
c.398-1G>A (n.398-1G>A)
c.3749-1G>A (n.3749-1G>A)
c.3845-1G>A (n.3845-1G>A)
c.3695-1G>A (n.3695-1G>A)
 ClinVar dbSNP
5g.128335297T>ACA360757883FBN2n.632-2A>T
n.713-2A>T
c.3848-2A>T (n.3848-2A>T)
c.398-2A>T (n.398-2A>T)
c.3749-2A>T (n.3749-2A>T)
c.3845-2A>T (n.3845-2A>T)
c.3695-2A>T (n.3695-2A>T)
5g.128335297T>CCA360757884FBN2n.632-2A>G
n.713-2A>G
c.3848-2A>G (n.3848-2A>G)
c.398-2A>G (n.398-2A>G)
c.3749-2A>G (n.3749-2A>G)
c.3845-2A>G (n.3845-2A>G)
c.3695-2A>G (n.3695-2A>G)
5g.128335297T>GCA360757885FBN2n.632-2A>C
n.713-2A>C
c.3848-2A>C (n.3848-2A>C)
c.398-2A>C (n.398-2A>C)
c.3749-2A>C (n.3749-2A>C)
c.3845-2A>C (n.3845-2A>C)
c.3695-2A>C (n.3695-2A>C)
5g.128335300T>ACA2675117073FBN2n.632-5A>T
n.713-5A>T
c.3848-5A>T (n.3848-5A>T)
c.398-5A>T (n.398-5A>T)
c.3749-5A>T (n.3749-5A>T)
c.3845-5A>T (n.3845-5A>T)
c.3695-5A>T (n.3695-5A>T)
 gnomAD v4
5g.128335301G>TCA2768335846FBN2n.632-6C>A
n.713-6C>A
c.3848-6C>A (n.3848-6C>A)
c.398-6C>A (n.398-6C>A)
c.3749-6C>A (n.3749-6C>A)
c.3845-6C>A (n.3845-6C>A)
c.3695-6C>A (n.3695-6C>A)
5g.128335303T>ACA2675117074FBN2n.632-8A>T
n.713-8A>T
c.3848-8A>T (n.3848-8A>T)
c.398-8A>T (n.398-8A>T)
c.3749-8A>T (n.3749-8A>T)
c.3845-8A>T (n.3845-8A>T)
c.3695-8A>T (n.3695-8A>T)
 gnomAD v4
5g.128335303T>CCA3395112FBN2n.632-8A>G
n.713-8A>G
c.3848-8A>G (n.3848-8A>G)
c.398-8A>G (n.398-8A>G)
c.3749-8A>G (n.3749-8A>G)
c.3845-8A>G (n.3845-8A>G)
c.3695-8A>G (n.3695-8A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128335303T=CA1581269521FBN2n.632-8A=
n.713-8A=
c.3848-8A= (n.3848-8A=)
c.398-8A= (n.398-8A=)
c.3749-8A= (n.3749-8A=)
c.3845-8A= (n.3845-8A=)
c.3695-8A= (n.3695-8A=)
5g.128335304_128335305insTCA2578396309FBN2n.632-10_632-9insA
n.713-10_713-9insA
c.3848-10_3848-9insA (n.3848-10_3848-9insA)
c.398-10_398-9insA (n.398-10_398-9insA)
c.3749-10_3749-9insA (n.3749-10_3749-9insA)
c.3845-10_3845-9insA (n.3845-10_3845-9insA)
c.3695-10_3695-9insA (n.3695-10_3695-9insA)
5g.128335305C>ACA290868FBN2n.632-10G>T
n.713-10G>T
c.3848-10G>T (n.3848-10G>T)
c.398-10G>T (n.398-10G>T)
c.3749-10G>T (n.3749-10G>T)
c.3845-10G>T (n.3845-10G>T)
c.3695-10G>T (n.3695-10G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128335305C=CA1581269522FBN2n.632-10G=
n.713-10G=
c.3848-10G= (n.3848-10G=)
c.398-10G= (n.398-10G=)
c.3749-10G= (n.3749-10G=)
c.3845-10G= (n.3845-10G=)
c.3695-10G= (n.3695-10G=)
5g.128335305C>GCA2581463892FBN2n.632-10G>C
n.713-10G>C
c.3848-10G>C (n.3848-10G>C)
c.398-10G>C (n.398-10G>C)
c.3749-10G>C (n.3749-10G>C)
c.3845-10G>C (n.3845-10G>C)
c.3695-10G>C (n.3695-10G>C)
5g.128335305C>TCA3395113FBN2n.632-10G>A
n.713-10G>A
c.3848-10G>A (n.3848-10G>A)
c.398-10G>A (n.398-10G>A)
c.3749-10G>A (n.3749-10G>A)
c.3845-10G>A (n.3845-10G>A)
c.3695-10G>A (n.3695-10G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128335310T>CCA2578396310FBN2n.632-15A>G
n.713-15A>G
c.3848-15A>G (n.3848-15A>G)
c.398-15A>G (n.398-15A>G)
c.3749-15A>G (n.3749-15A>G)
c.3845-15A>G (n.3845-15A>G)
c.3695-15A>G (n.3695-15A>G)
 gnomAD v4
5g.128335313G>ACA2675117075FBN2n.632-18C>T
n.713-18C>T
c.3848-18C>T (n.3848-18C>T)
c.398-18C>T (n.398-18C>T)
c.3749-18C>T (n.3749-18C>T)
c.3845-18C>T (n.3845-18C>T)
c.3695-18C>T (n.3695-18C>T)
 gnomAD v4
5g.128335315A>TCA2675117076FBN2n.632-20T>A
n.713-20T>A
c.3848-20T>A (n.3848-20T>A)
c.398-20T>A (n.398-20T>A)
c.3749-20T>A (n.3749-20T>A)
c.3845-20T>A (n.3845-20T>A)
c.3695-20T>A (n.3695-20T>A)
 gnomAD v4
5g.128335316T>ACA562715381FBN2n.632-21A>T
n.713-21A>T
c.3848-21A>T (n.3848-21A>T)
c.398-21A>T (n.398-21A>T)
c.3749-21A>T (n.3749-21A>T)
c.3845-21A>T (n.3845-21A>T)
c.3695-21A>T (n.3695-21A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128335316T>CCA2546192674FBN2n.632-21A>G
n.713-21A>G
c.3848-21A>G (n.3848-21A>G)
c.398-21A>G (n.398-21A>G)
c.3749-21A>G (n.3749-21A>G)
c.3845-21A>G (n.3845-21A>G)
c.3695-21A>G (n.3695-21A>G)
 gnomAD v4
5g.128335316T=CA1581269523FBN2n.632-21A=
n.713-21A=
c.3848-21A= (n.3848-21A=)
c.398-21A= (n.398-21A=)
c.3749-21A= (n.3749-21A=)
c.3845-21A= (n.3845-21A=)
c.3695-21A= (n.3695-21A=)
5g.128335317C>ACA1581269525FBN2n.632-22G>T
n.713-22G>T
c.3848-22G>T (n.3848-22G>T)
c.398-22G>T (n.398-22G>T)
c.3749-22G>T (n.3749-22G>T)
c.3845-22G>T (n.3845-22G>T)
c.3695-22G>T (n.3695-22G>T)
 dbSNP gnomAD v4
5g.128335317C=CA1581269524FBN2n.632-22G=
n.713-22G=
c.3848-22G= (n.3848-22G=)
c.398-22G= (n.398-22G=)
c.3749-22G= (n.3749-22G=)
c.3845-22G= (n.3845-22G=)
c.3695-22G= (n.3695-22G=)
5g.128335317C>GCA3395114FBN2n.632-22G>C
n.713-22G>C
c.3848-22G>C (n.3848-22G>C)
c.398-22G>C (n.398-22G>C)
c.3749-22G>C (n.3749-22G>C)
c.3845-22G>C (n.3845-22G>C)
c.3695-22G>C (n.3695-22G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128335317C>TCA3395115FBN2n.632-22G>A
n.713-22G>A
c.3848-22G>A (n.3848-22G>A)
c.398-22G>A (n.398-22G>A)
c.3749-22G>A (n.3749-22G>A)
c.3845-22G>A (n.3845-22G>A)
c.3695-22G>A (n.3695-22G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.128335319A>GCA650271443FBN2n.632-24T>C
n.713-24T>C
c.3848-24T>C (n.3848-24T>C)
c.398-24T>C (n.398-24T>C)
c.3749-24T>C (n.3749-24T>C)
c.3845-24T>C (n.3845-24T>C)
c.3695-24T>C (n.3695-24T>C)
 COSMIC
5g.128335319A>TCA650271440FBN2n.632-24T>A
n.713-24T>A
c.3848-24T>A (n.3848-24T>A)
c.398-24T>A (n.398-24T>A)
c.3749-24T>A (n.3749-24T>A)
c.3845-24T>A (n.3845-24T>A)
c.3695-24T>A (n.3695-24T>A)
 COSMIC
5g.128335320A>GCA2675117077FBN2n.632-25T>C
n.713-25T>C
c.3848-25T>C (n.3848-25T>C)
c.398-25T>C (n.398-25T>C)
c.3749-25T>C (n.3749-25T>C)
c.3845-25T>C (n.3845-25T>C)
c.3695-25T>C (n.3695-25T>C)
 gnomAD v4
5g.128335322delCA2675117078FBN2n.632-27del
n.713-27del
c.3848-27del (n.3848-27del)
c.398-27del (n.398-27del)
c.3749-27del (n.3749-27del)
c.3845-27del (n.3845-27del)
c.3695-27del (n.3695-27del)
 gnomAD v4
5g.128335323A>GCA2675117079FBN2n.632-28T>C
n.713-28T>C
c.3848-28T>C (n.3848-28T>C)
c.398-28T>C (n.398-28T>C)
c.3749-28T>C (n.3749-28T>C)
c.3845-28T>C (n.3845-28T>C)
c.3695-28T>C (n.3695-28T>C)
 gnomAD v4
5g.128335323A>TCA2675117080FBN2n.632-28T>A
n.713-28T>A
c.3848-28T>A (n.3848-28T>A)
c.398-28T>A (n.398-28T>A)
c.3749-28T>A (n.3749-28T>A)
c.3845-28T>A (n.3845-28T>A)
c.3695-28T>A (n.3695-28T>A)
 gnomAD v4
5g.128335324A>CCA2675117081FBN2n.632-29T>G
n.713-29T>G
c.3848-29T>G (n.3848-29T>G)
c.398-29T>G (n.398-29T>G)
c.3749-29T>G (n.3749-29T>G)
c.3845-29T>G (n.3845-29T>G)
c.3695-29T>G (n.3695-29T>G)
 gnomAD v4
5g.128335327T>ACA2578396311FBN2n.632-32A>T
n.713-32A>T
c.3848-32A>T (n.3848-32A>T)
c.398-32A>T (n.398-32A>T)
c.3749-32A>T (n.3749-32A>T)
c.3845-32A>T (n.3845-32A>T)
c.3695-32A>T (n.3695-32A>T)
5g.128335327T>CCA1581269527FBN2n.632-32A>G
n.713-32A>G
c.3848-32A>G (n.3848-32A>G)
c.398-32A>G (n.398-32A>G)
c.3749-32A>G (n.3749-32A>G)
c.3845-32A>G (n.3845-32A>G)
c.3695-32A>G (n.3695-32A>G)
 dbSNP gnomAD v4
5g.128335327T=CA1581269526FBN2n.632-32A=
n.713-32A=
c.3848-32A= (n.3848-32A=)
c.398-32A= (n.398-32A=)
c.3749-32A= (n.3749-32A=)
c.3845-32A= (n.3845-32A=)
c.3695-32A= (n.3695-32A=)
5g.128335327_128335328delinsTACA1581269528FBN2n.632-33_632-32delinsTA
n.713-33_713-32delinsTA
c.3848-33_3848-32delinsTA (n.3848-33_3848-32delinsTA)
c.398-33_398-32delinsTA (n.398-33_398-32delinsTA)
c.3749-33_3749-32delinsTA (n.3749-33_3749-32delinsTA)
c.3845-33_3845-32delinsTA (n.3845-33_3845-32delinsTA)
c.3695-33_3695-32delinsTA (n.3695-33_3695-32delinsTA)
5g.128335328A=CA1581269530FBN2n.632-33T=
n.713-33T=
c.3848-33T= (n.3848-33T=)
c.398-33T= (n.398-33T=)
c.3749-33T= (n.3749-33T=)
c.3845-33T= (n.3845-33T=)
c.3695-33T= (n.3695-33T=)
5g.128335328A>TCA1581269531FBN2n.632-33T>A
n.713-33T>A
c.3848-33T>A (n.3848-33T>A)
c.398-33T>A (n.398-33T>A)
c.3749-33T>A (n.3749-33T>A)
c.3845-33T>A (n.3845-33T>A)
c.3695-33T>A (n.3695-33T>A)
 dbSNP gnomAD v4
5g.128335332delCA1581269529FBN2n.632-33del
n.713-33del
c.3848-33del (n.3848-33del)
c.398-33del (n.398-33del)
c.3749-33del (n.3749-33del)
c.3845-33del (n.3845-33del)
c.3695-33del (n.3695-33del)
 dbSNP
5g.128335329A=CA1581269532FBN2n.632-34T=
n.713-34T=
c.3848-34T= (n.3848-34T=)
c.398-34T= (n.398-34T=)
c.3749-34T= (n.3749-34T=)
c.3845-34T= (n.3845-34T=)
c.3695-34T= (n.3695-34T=)
5g.128335329A>GCA562715386FBN2n.632-34T>C
n.713-34T>C
c.3848-34T>C (n.3848-34T>C)
c.398-34T>C (n.398-34T>C)
c.3749-34T>C (n.3749-34T>C)
c.3845-34T>C (n.3845-34T>C)
c.3695-34T>C (n.3695-34T>C)
 dbSNP gnomAD v2 gnomAD v4
5g.128335330A>CCA2675117082FBN2n.632-35T>G
n.713-35T>G
c.3848-35T>G (n.3848-35T>G)
c.398-35T>G (n.398-35T>G)
c.3749-35T>G (n.3749-35T>G)
c.3845-35T>G (n.3845-35T>G)
c.3695-35T>G (n.3695-35T>G)
 gnomAD v4
5g.128335330A>TCA2578396312FBN2n.632-35T>A
n.713-35T>A
c.3848-35T>A (n.3848-35T>A)
c.398-35T>A (n.398-35T>A)
c.3749-35T>A (n.3749-35T>A)
c.3845-35T>A (n.3845-35T>A)
c.3695-35T>A (n.3695-35T>A)
5g.128335331A=CA1581269533FBN2n.632-36T=
n.713-36T=
c.3848-36T= (n.3848-36T=)
c.398-36T= (n.398-36T=)
c.3749-36T= (n.3749-36T=)
c.3845-36T= (n.3845-36T=)
c.3695-36T= (n.3695-36T=)
5g.128335331A>GCA562715388FBN2n.632-36T>C
n.713-36T>C
c.3848-36T>C (n.3848-36T>C)
c.398-36T>C (n.398-36T>C)
c.3749-36T>C (n.3749-36T>C)
c.3845-36T>C (n.3845-36T>C)
c.3695-36T>C (n.3695-36T>C)
 dbSNP gnomAD v2 gnomAD v4
5g.128335332A=CA1581269534FBN2n.632-37T=
n.713-37T=
c.3848-37T= (n.3848-37T=)
c.398-37T= (n.398-37T=)
c.3749-37T= (n.3749-37T=)
c.3845-37T= (n.3845-37T=)
c.3695-37T= (n.3695-37T=)
5g.128335332A>GCA803636862FBN2n.632-37T>C
n.713-37T>C
c.3848-37T>C (n.3848-37T>C)
c.398-37T>C (n.398-37T>C)
c.3749-37T>C (n.3749-37T>C)
c.3845-37T>C (n.3845-37T>C)
c.3695-37T>C (n.3695-37T>C)
 dbSNP
5g.128335333T>CCA562715390FBN2n.632-38A>G
n.713-38A>G
c.3848-38A>G (n.3848-38A>G)
c.398-38A>G (n.398-38A>G)
c.3749-38A>G (n.3749-38A>G)
c.3845-38A>G (n.3845-38A>G)
c.3695-38A>G (n.3695-38A>G)
 dbSNP gnomAD v2 gnomAD v4
5g.128335333T=CA1581269535FBN2n.632-38A=
n.713-38A=
c.3848-38A= (n.3848-38A=)
c.398-38A= (n.398-38A=)
c.3749-38A= (n.3749-38A=)
c.3845-38A= (n.3845-38A=)
c.3695-38A= (n.3695-38A=)
5g.128335333_128335336delinsTGTCCA1581269536FBN2n.632-41_632-38delinsGACA
n.713-41_713-38delinsGACA
c.3848-41_3848-38delinsGACA (n.3848-41_3848-38delinsGACA)
c.398-41_398-38delinsGACA (n.398-41_398-38delinsGACA)
c.3749-41_3749-38delinsGACA (n.3749-41_3749-38delinsGACA)
c.3845-41_3845-38delinsGACA (n.3845-41_3845-38delinsGACA)
c.3695-41_3695-38delinsGACA (n.3695-41_3695-38delinsGACA)
5g.128335334G>ACA650271452FBN2n.632-39C>T
n.713-39C>T
c.3848-39C>T (n.3848-39C>T)
c.398-39C>T (n.398-39C>T)
c.3749-39C>T (n.3749-39C>T)
c.3845-39C>T (n.3845-39C>T)
c.3695-39C>T (n.3695-39C>T)
 COSMIC
5g.128335334G=CA1581269537FBN2n.632-39C=
n.713-39C=
c.3848-39C= (n.3848-39C=)
c.398-39C= (n.398-39C=)
c.3749-39C= (n.3749-39C=)
c.3845-39C= (n.3845-39C=)
c.3695-39C= (n.3695-39C=)
5g.128335334G>TCA562715393FBN2n.632-39C>A
n.713-39C>A
c.3848-39C>A (n.3848-39C>A)
c.398-39C>A (n.398-39C>A)
c.3749-39C>A (n.3749-39C>A)
c.3845-39C>A (n.3845-39C>A)
c.3695-39C>A (n.3695-39C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.128335336_128335338delCA562715392FBN2n.632-41_632-39del
n.713-41_713-39del
c.3848-41_3848-39del (n.3848-41_3848-39del)
c.398-41_398-39del (n.398-41_398-39del)
c.3749-41_3749-39del (n.3749-41_3749-39del)
c.3845-41_3845-39del (n.3845-41_3845-39del)
c.3695-41_3695-39del (n.3695-41_3695-39del)
 dbSNP gnomAD v2 gnomAD v4
5g.128335336C=CA1581269538FBN2n.632-41G=
n.713-41G=
c.3848-41G= (n.3848-41G=)
c.398-41G= (n.398-41G=)
c.3749-41G= (n.3749-41G=)
c.3845-41G= (n.3845-41G=)
c.3695-41G= (n.3695-41G=)
5g.128335336C>TCA3395116FBN2n.632-41G>A
n.713-41G>A
c.3848-41G>A (n.3848-41G>A)
c.398-41G>A (n.398-41G>A)
c.3749-41G>A (n.3749-41G>A)
c.3845-41G>A (n.3845-41G>A)
c.3695-41G>A (n.3695-41G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128335336_128335337insTCA2675117083FBN2n.632-42_632-41insA
n.713-42_713-41insA
c.3848-42_3848-41insA (n.3848-42_3848-41insA)
c.398-42_398-41insA (n.398-42_398-41insA)
c.3749-42_3749-41insA (n.3749-42_3749-41insA)
c.3845-42_3845-41insA (n.3845-42_3845-41insA)
c.3695-42_3695-41insA (n.3695-42_3695-41insA)
 gnomAD v4
5g.128335336_128335337insTAAAGCA2514313286FBN2n.632-42_632-41insCTTTA
n.713-42_713-41insCTTTA
c.3848-42_3848-41insCTTTA (n.3848-42_3848-41insCTTTA)
c.398-42_398-41insCTTTA (n.398-42_398-41insCTTTA)
c.3749-42_3749-41insCTTTA (n.3749-42_3749-41insCTTTA)
c.3845-42_3845-41insCTTTA (n.3845-42_3845-41insCTTTA)
c.3695-42_3695-41insCTTTA (n.3695-42_3695-41insCTTTA)
5g.128335337G>ACA3395117FBN2n.632-42C>T
n.713-42C>T
c.3848-42C>T (n.3848-42C>T)
c.398-42C>T (n.398-42C>T)
c.3749-42C>T (n.3749-42C>T)
c.3845-42C>T (n.3845-42C>T)
c.3695-42C>T (n.3695-42C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128335337G>CCA2768335847FBN2n.632-42C>G
n.713-42C>G
c.3848-42C>G (n.3848-42C>G)
c.398-42C>G (n.398-42C>G)
c.3749-42C>G (n.3749-42C>G)
c.3845-42C>G (n.3845-42C>G)
c.3695-42C>G (n.3695-42C>G)
5g.128335337G=CA1581269539FBN2n.632-42C=
n.713-42C=
c.3848-42C= (n.3848-42C=)
c.398-42C= (n.398-42C=)
c.3749-42C= (n.3749-42C=)
c.3845-42C= (n.3845-42C=)
c.3695-42C= (n.3695-42C=)
5g.128335337G>TCA2675117084FBN2n.632-42C>A
n.713-42C>A
c.3848-42C>A (n.3848-42C>A)
c.398-42C>A (n.398-42C>A)
c.3749-42C>A (n.3749-42C>A)
c.3845-42C>A (n.3845-42C>A)
c.3695-42C>A (n.3695-42C>A)
 gnomAD v4
5g.128335338T>CCA3395118FBN2n.632-43A>G
n.713-43A>G
c.3848-43A>G (n.3848-43A>G)
c.398-43A>G (n.398-43A>G)
c.3749-43A>G (n.3749-43A>G)
c.3845-43A>G (n.3845-43A>G)
c.3695-43A>G (n.3695-43A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128335338T>GCA127013704FBN2n.632-43A>C
n.713-43A>C
c.3848-43A>C (n.3848-43A>C)
c.398-43A>C (n.398-43A>C)
c.3749-43A>C (n.3749-43A>C)
c.3845-43A>C (n.3845-43A>C)
c.3695-43A>C (n.3695-43A>C)
 dbSNP
5g.128335338T=CA1581269540FBN2n.632-43A=
n.713-43A=
c.3848-43A= (n.3848-43A=)
c.398-43A= (n.398-43A=)
c.3749-43A= (n.3749-43A=)
c.3845-43A= (n.3845-43A=)
c.3695-43A= (n.3695-43A=)
5g.128335340C>ACA1581269542FBN2n.632-45G>T
n.713-45G>T
c.3848-45G>T (n.3848-45G>T)
c.398-45G>T (n.398-45G>T)
c.3749-45G>T (n.3749-45G>T)
c.3845-45G>T (n.3845-45G>T)
c.3695-45G>T (n.3695-45G>T)
 dbSNP gnomAD v4
5g.128335340C=CA1581269541FBN2n.632-45G=
n.713-45G=
c.3848-45G= (n.3848-45G=)
c.398-45G= (n.398-45G=)
c.3749-45G= (n.3749-45G=)
c.3845-45G= (n.3845-45G=)
c.3695-45G= (n.3695-45G=)
5g.128335341A=CA1581269543FBN2n.632-46T=
n.713-46T=
c.3848-46T= (n.3848-46T=)
c.398-46T= (n.398-46T=)
c.3749-46T= (n.3749-46T=)
c.3845-46T= (n.3845-46T=)
c.3695-46T= (n.3695-46T=)
5g.128335341A>CCA2675117085FBN2n.632-46T>G
n.713-46T>G
c.3848-46T>G (n.3848-46T>G)
c.398-46T>G (n.398-46T>G)
c.3749-46T>G (n.3749-46T>G)
c.3845-46T>G (n.3845-46T>G)
c.3695-46T>G (n.3695-46T>G)
 gnomAD v4
5g.128335341A>GCA2675117086FBN2n.632-46T>C
n.713-46T>C
c.3848-46T>C (n.3848-46T>C)
c.398-46T>C (n.398-46T>C)
c.3749-46T>C (n.3749-46T>C)
c.3845-46T>C (n.3845-46T>C)
c.3695-46T>C (n.3695-46T>C)
 gnomAD v4
5g.128335341A>TCA3395119FBN2n.632-46T>A
n.713-46T>A
c.3848-46T>A (n.3848-46T>A)
c.398-46T>A (n.398-46T>A)
c.3749-46T>A (n.3749-46T>A)
c.3845-46T>A (n.3845-46T>A)
c.3695-46T>A (n.3695-46T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128335342T>ACA127013710FBN2n.632-47A>T
n.713-47A>T
c.3848-47A>T (n.3848-47A>T)
c.398-47A>T (n.398-47A>T)
c.3749-47A>T (n.3749-47A>T)
c.3845-47A>T (n.3845-47A>T)
c.3695-47A>T (n.3695-47A>T)
 dbSNP
5g.128335342T=CA1581269544FBN2n.632-47A=
n.713-47A=
c.3848-47A= (n.3848-47A=)
c.398-47A= (n.398-47A=)
c.3749-47A= (n.3749-47A=)
c.3845-47A= (n.3845-47A=)
c.3695-47A= (n.3695-47A=)
5g.128335343C=CA1581269545FBN2n.632-48G=
n.713-48G=
c.3848-48G= (n.3848-48G=)
c.398-48G= (n.398-48G=)
c.3749-48G= (n.3749-48G=)
c.3845-48G= (n.3845-48G=)
c.3695-48G= (n.3695-48G=)
5g.128335343C>GCA127013715FBN2n.632-48G>C
n.713-48G>C
c.3848-48G>C (n.3848-48G>C)
c.398-48G>C (n.398-48G>C)
c.3749-48G>C (n.3749-48G>C)
c.3845-48G>C (n.3845-48G>C)
c.3695-48G>C (n.3695-48G>C)
 dbSNP gnomAD v4
5g.128335344A=CA1581269546FBN2n.632-49T=
n.713-49T=
c.3848-49T= (n.3848-49T=)
c.398-49T= (n.398-49T=)
c.3749-49T= (n.3749-49T=)
c.3845-49T= (n.3845-49T=)
c.3695-49T= (n.3695-49T=)
5g.128335344A>TCA3395120FBN2n.632-49T>A
n.713-49T>A
c.3848-49T>A (n.3848-49T>A)
c.398-49T>A (n.398-49T>A)
c.3749-49T>A (n.3749-49T>A)
c.3845-49T>A (n.3845-49T>A)
c.3695-49T>A (n.3695-49T>A)
 dbSNP ExAC gnomAD v2
5g.128335345A=CA1581269547FBN2n.632-50T=
n.713-50T=
c.3848-50T= (n.3848-50T=)
c.398-50T= (n.398-50T=)
c.3749-50T= (n.3749-50T=)
c.3845-50T= (n.3845-50T=)
c.3695-50T= (n.3695-50T=)
5g.128335345A>GCA3395121FBN2n.632-50T>C
n.713-50T>C
c.3848-50T>C (n.3848-50T>C)
c.398-50T>C (n.398-50T>C)
c.3749-50T>C (n.3749-50T>C)
c.3845-50T>C (n.3845-50T>C)
c.3695-50T>C (n.3695-50T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.128335346T>CCA2675117087FBN2n.632-51A>G
n.713-51A>G
c.3848-51A>G (n.3848-51A>G)
c.398-51A>G (n.398-51A>G)
c.3749-51A>G (n.3749-51A>G)
c.3845-51A>G (n.3845-51A>G)
c.3695-51A>G (n.3695-51A>G)
 gnomAD v4
5g.128335349C>ACA650271459FBN2n.632-54G>T
n.713-54G>T
c.3848-54G>T (n.3848-54G>T)
c.398-54G>T (n.398-54G>T)
c.3749-54G>T (n.3749-54G>T)
c.3845-54G>T (n.3845-54G>T)
c.3695-54G>T (n.3695-54G>T)
 COSMIC
5g.128335350A>CCA2675117088FBN2n.632-55T>G
n.713-55T>G
c.3848-55T>G (n.3848-55T>G)
c.398-55T>G (n.398-55T>G)
c.3749-55T>G (n.3749-55T>G)
c.3845-55T>G (n.3845-55T>G)
c.3695-55T>G (n.3695-55T>G)
 gnomAD v4
5g.128335351A=CA1581269548FBN2n.632-56T=
n.713-56T=
c.3848-56T= (n.3848-56T=)
c.398-56T= (n.398-56T=)
c.3749-56T= (n.3749-56T=)
c.3845-56T= (n.3845-56T=)
c.3695-56T= (n.3695-56T=)
5g.128335351A>GCA2675117089FBN2n.632-56T>C
n.713-56T>C
c.3848-56T>C (n.3848-56T>C)
c.398-56T>C (n.398-56T>C)
c.3749-56T>C (n.3749-56T>C)
c.3845-56T>C (n.3845-56T>C)
c.3695-56T>C (n.3695-56T>C)
 gnomAD v4
5g.128335351A>TCA803636879FBN2n.632-56T>A
n.713-56T>A
c.3848-56T>A (n.3848-56T>A)
c.398-56T>A (n.398-56T>A)
c.3749-56T>A (n.3749-56T>A)
c.3845-56T>A (n.3845-56T>A)
c.3695-56T>A (n.3695-56T>A)
 dbSNP gnomAD v3 gnomAD v4
5g.128335353T>CCA2675117090FBN2n.632-58A>G
n.713-58A>G
c.3848-58A>G (n.3848-58A>G)
c.398-58A>G (n.398-58A>G)
c.3749-58A>G (n.3749-58A>G)
c.3845-58A>G (n.3845-58A>G)
c.3695-58A>G (n.3695-58A>G)
 gnomAD v4
5g.128335354G>ACA2675117091FBN2n.632-59C>T
n.713-59C>T
c.3848-59C>T (n.3848-59C>T)
c.398-59C>T (n.398-59C>T)
c.3749-59C>T (n.3749-59C>T)
c.3845-59C>T (n.3845-59C>T)
c.3695-59C>T (n.3695-59C>T)
 gnomAD v4
5g.128335355T>GCA2675117092FBN2n.632-60A>C
n.713-60A>C
c.3848-60A>C (n.3848-60A>C)
c.398-60A>C (n.398-60A>C)
c.3749-60A>C (n.3749-60A>C)
c.3845-60A>C (n.3845-60A>C)
c.3695-60A>C (n.3695-60A>C)
 gnomAD v4
5g.128335356T>GCA1581269550FBN2n.632-61A>C
n.713-61A>C
c.3848-61A>C (n.3848-61A>C)
c.398-61A>C (n.398-61A>C)
c.3749-61A>C (n.3749-61A>C)
c.3845-61A>C (n.3845-61A>C)
c.3695-61A>C (n.3695-61A>C)
 dbSNP gnomAD v4
5g.128335356T=CA1581269549FBN2n.632-61A=
n.713-61A=
c.3848-61A= (n.3848-61A=)
c.398-61A= (n.398-61A=)
c.3749-61A= (n.3749-61A=)
c.3845-61A= (n.3845-61A=)
c.3695-61A= (n.3695-61A=)

Number of alleles fetched